ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg)

dbSNP: rs1295267806
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003313003 SCV001523727 uncertain significance Myofibrillar myopathy 3 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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